Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE The presence of either PNPLA3 G/G or TM6SF2*/T identified high-risk genotypes for HCC, which were strongly associated with HCC (64/150 vs. 93/361, p=0.0002). 26493626 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Among individuals homozygous for the PNPLA3 G allele (n = 115), the frequency of the JAZF1 rs864745 G allele was significantly higher among DM-HCC individuals than DM-non-HCC individuals (OR 3.44, p = 0.0002). 26337813 2016
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Carriage of the PNPLA3 rs738409 C >G polymorphism is not only associated with greater risk of progressive steatohepatitis and fibrosis but also of HCC. 24607626 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE In particular, the common I148M variant of the PNPLA3 gene influencing hepatic lipid metabolism influences HCC risk independently of its effect on the progression of liver fibrosis. 25278690 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Modulation of serum adiponectin might be involved in mediating the susceptibility to steatosis, NASH, and hepatocellular carcinoma in carriers of the 148 M PNPLA3 variant without CHC, with potential therapeutic implications. 22898488 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 Biomarker disease BEFREE Recent advances include the identification of PNPLA3 as a modifier of disease outcome across the full spectrum of NAFLD from steatosis to advanced fibrosis and hepatocellular carcinoma; and the discovery of TM6SF2 as a potential "master regulator" of metabolic syndrome outcome, determining not only risk of advanced liver disease, but also cardiovascular disease outcomes. 26378644 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE This study was conducted to determine whether PNPLA3 rs738409 SNPs affect development and prognosis of hepatocellular carcinoma (HCC) in patients with various liver diseases. 22869157 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Thus, polymorphisms in MICA, but not in DEPDC5, HCP5 or PNPLA3, are associated with HCC development in Japanese patients with chronic HCV infection. 28928439 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 Biomarker disease BEFREE In conclusion, we identified liver-specific genes linked to NAFLD pathogenesis, such as pyruvate kinase liver and red blood cell (PKLR), or to HCC pathogenesis, such as PKLR, patatin-like phospholipase domain containing 3 (PNPLA3), and proprotein convertase subtilisin/kexin type 9 (PCSK9), all of which are potential targets for drug development. 28827398 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE ALT, lipid profile, PNPLA3 variant distribution and HBV viral load did not differ among co-infected patients with or without HCC. 25536644 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 Biomarker disease BEFREE Homozygosity for PNPLA3 148M was associated with reduced survival in the overall series (p = 0.009), and with a higher number of HCC lesions at presentation (p = 0.007) and reduced survival in ALD&NAFLD patients (p = 0.003; median survival 30, 95% c.i.20-39 vs. 45, 95% c.i. 24155878 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 Biomarker disease BEFREE Steatohepatitis was associated with all-cause mortality [Hazard ratio (HR) 3.1, 95%CI: 1.3-7.3, P = 0.006] and HCC (HR 2.8, 95%CI: 0.9-9.2, P = 0.078), but no significant association was observed for PNPLA3. 25284145 2015
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Recent reports revealed an association between variation in the PNPLA3 gene and alcohol-induced hepatocellular carcinoma among Europeans. 24269995 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE We also explored the possible effect of PNPLA3 genotype on other steatosis-related complications, namely, treatment failure and hepatocellular carcinoma (HCC) development. 21319195 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE In end-stage liver disease patients, we identified ALD to be predominantly affected by the PNPLA3I148M variant resulting in an increased risk of HCC and reduced transplantation free survival. 25273282 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Association between PNPLA3 (rs738409 C>G) variant and hepatocellular carcinoma in Asian chronic hepatitis C patients: A longitudinal study. 29089161 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Overall, these results suggest that rs738409 exerts a marked influence on hepatocarcinogenesis in patients with cirrhosis of European descent and provide a strong argument for performing further mechanistic studies to better understand the role of PNPLA3 in HCC development. 24114809 2014
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE These data showed that PNPLA3 and TM6SF2 polymorphisms were independently linked to NBNC-HCC but not HBV- or HCV-HCC in Thai populations. 30506232 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Carriage of both PNPLA3 rs738409 and TM6SF2 rs58542926 accounts for half of the attributable risk for HCC in this population. 29535416 2018
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Recently, the common variant p.I148M of the enzyme adiponutrin (PNPLA3) has emerged as a major genetic determinant of hepatic steatosis and nonalcoholic steatohepatitis as well as its pathobiological sequelae fibrosis, cirrhosis, and hepatocellular cancer. 24222094 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Single nucleotide polymorphisms (such as PNPLA3, TM6SF2 and MBOAT7) are related to the susceptibility to the development of HCC and its progression. 31717576 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 AlteredExpression disease BEFREE As expected, overexpression of ATGL in cultured hepatoma (HuH-7) cells depleted the cells of LDs, but unexpectedly, co-expression of PNPLA3(wild type [WT] or 148M) with ATGL inhibited that depletion. 30802989 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE The correlation between patatin-like phospholipase domain-containing protein 3 (<i>PNPLA3</i>) rs738409 polymorphism and hepatocellular carcinoma was investigated by several pilot studies, but the results of these studies were controversial. 30852978 2019
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE We compared distributions of PNPLA3 genotypes in 80 and 81 Caucasian patients with alcoholic and hepatitis C virus (HCV)-associated HCC to 80 and 81 age- and sex-matched patients with alcohol-related and HCV-related cirrhosis without HCC, respectively. 22087248 2011
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.200 GeneticVariation disease BEFREE Next, we will analyze the evidences for the association between PNPLA3 I148M variant and HCC. 23333103 2013